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Clinical Genetics
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January 6, 2011
Clinical findings in patients with GLI2 mutations--phenotypic variability
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, et al.
Molecular Syndromology
|
October 30, 2013
Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2
L A Ribeiro-Bicudo, C de Campos Legnaro, B F Gamba, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 19, 2024
Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum
A L Petrin, L A Machado-Paula, A Hinkle, et al.
Human Mutation
|
July 12, 2018
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
Erich Roessler, Ping Hu, Juliana Marino, et al.
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of 1
Search research articles
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Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Clinical Genetics
|
January 6, 2011
Clinical findings in patients with GLI2 mutations--phenotypic variability
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, et al.
Molecular Syndromology
|
October 30, 2013
Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2
L A Ribeiro-Bicudo, C de Campos Legnaro, B F Gamba, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 19, 2024
Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum
A L Petrin, L A Machado-Paula, A Hinkle, et al.
Human Mutation
|
July 12, 2018
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
Erich Roessler, Ping Hu, Juliana Marino, et al.
Page
of 1